Article
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene.
Journal of inherited metabolic disease - 1 Dec 2008
Shirwalkar H U, Patel Z M, Magre J, Hilbert P, Van Maldergem L, Mukhopadhyay R R, Maitra A
Abstract excerpt
Congenital generalized lipodystrophy (CGL) is an autosomal recessive metabolic syndrome with involvement of multiple organs. Mutations in BSCL2 are known to be associated with a severe form of CGL and mental retardation (MR). The genetic heterogeneity in CGL patients is accompanied by phenotypic heterogeneity in different ethnic groups. Studies in the Indian context are very few in this regard. We report here a...
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